Risultati della ricerca - Panagiotis I. Sergouniotis

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  1. 1
    From genetic variation to precision medicine

    From genetic variation to precision medicine di Panagiotis I. Sergouniotis, Tomas Fitzgerald, Ewan Birney

    Pubblicazione 2023
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  2. 2
    Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

    Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis di Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster

    Pubblicazione 2011
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  3. 3
    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration di Thomas Julian, Johnathan Cooper‐Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme Black, Panagiotis I. Sergouniotis

    Pubblicazione 2023
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  4. 4
    Retinal imaging for the assessment of stroke risk: a systematic review

    Retinal imaging for the assessment of stroke risk: a systematic review di Zain Girach, Arni Sarian, Cynthia Maldonado-García, Nishant Ravikumar, Panagiotis I. Sergouniotis, Peter M. Rothwell, Alejandro F. Frangi, Thomas Julian

    Pubblicazione 2024
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  5. 5
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism di Vincent Michaud, Eulalie Lasseaux, David Green, Dave T. Gerrard, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Benoı̂t Arveiler, Graeme Black, Panagiotis I. Sergouniotis

    Pubblicazione 2022
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  6. 6
    Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

    Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans di Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides, Donna S. Mackay, Genevieve Wright, Sophie Devery, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Andrew R. Webster

    Pubblicazione 2009
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  7. 7
    Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

    Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 di Robert Henderson, Donna S. Mackay, Zheng Li, Phillip Moradi, Panagiotis I. Sergouniotis, I Russell‐Eggitt, Dorothy Thompson, Anthony G. Robson, G.E. Holder, A. R. Webster, A. T. Moore

    Pubblicazione 2010
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  8. 8
    <i>RP1L1</i>Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

    <i>RP1L1</i>Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy di Alice E. Davidson, Panagiotis I. Sergouniotis, Donna S. Mackay, Genevieve Wright, Naushin Waseem, Michel Michaelides, Graham E. Holder, Anthony G. Robson, Anthony T. Moore, Vincent Plagnol, Andrew R. Webster

    Pubblicazione 2012
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  9. 9
    Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations

    Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations di Valentina Cipriani, Anna Tierney, John R. Griffiths, Verena Zuber, Panagiotis I. Sergouniotis, John R.W. Yates, Anthony T. Moore, Paul N. Bishop, Simon J. Clark, Richard D. Unwin

    Pubblicazione 2021
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  10. 10
    Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

    Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy di Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis, Richard Holt, Suzanne Broadgate, Emanuela V. Volpi, Louise Ocaka, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, Michel Michaelides, Andrew R. Webster

    Pubblicazione 2014
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  11. 11
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data di Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Daniš, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley

    Pubblicazione 2020
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  12. 12
    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases di Jamie M. Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev S. Bhaskar, Panagiotis I. Sergouniotis, Rachel L. Taylor, Keren Carss, Lucy F. Raymond, Michel Michaelides, Simon Ramsden, Andrew R. Webster, Graeme Black

    Pubblicazione 2017
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  13. 13
    Validation of copy number variation analysis for next-generation sequencing diagnostics

    Validation of copy number variation analysis for next-generation sequencing diagnostics di Jamie M. Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev S. Bhaskar, Saurabh Gupta, Rachel L. Taylor, Panagiotis I. Sergouniotis, Bradley Horn, Janine A. Lamb, Michel Michaelides, Andrew R. Webster, William G. Newman, Binay Panda, Simon Ramsden, Graeme Black

    Pubblicazione 2017
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  14. 14
    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy di Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana M Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol

    Pubblicazione 2014
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  15. 15
    Retinal Structure and Function in Achromatopsia

    Retinal Structure and Function in Achromatopsia di Venki Sundaram, Caroline Wilde, Jonathan Aboshiha, Jill A. Cowing, Colin Han, Christopher S. Langlo, Ravinder Chana, Alice E. Davidson, Panagiotis I. Sergouniotis, James Bainbridge, Robin R. Ali, Alfredo Dubra, Gary S. Rubin, Andrew R. Webster, Anthony T. Moore, Marko Nardini, Joseph Carroll, Michel Michaelides

    Pubblicazione 2013
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  16. 16
    Molecular findings from 537 individuals with inherited retinal disease

    Molecular findings from 537 individuals with inherited retinal disease di Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Paul N. Bishop, Simon Ramsden, Graeme Black

    Pubblicazione 2016
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  17. 17
    Clinical and genetic variability in children with partial albinism

    Clinical and genetic variability in children with partial albinism di Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    Pubblicazione 2019
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  18. 18
    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders di Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    Pubblicazione 2019
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  19. 19
    Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

    Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease di Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme Black

    Pubblicazione 2016
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  20. 20
    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement di Graeme Black, Panagiotis I. Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Lišková, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Tauriņa, Marius Šukys, Lonneke Haer‐Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P.M. Cremers, Elfride De Baere, Hélène Dollfus

    Pubblicazione 2021
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